Canonical Allele Identifier: CA3350534

Gene: PCSK1

Linked Data

• dbSNP Id: rs778664712
• ExAC: 5:95764871 C / G
• gnomAD v2: 5-95764871-C-G
• gnomAD v4: 5-96429167-C-G
• MyVariant Identifiers: chr5:g.95764871C>G (hg19) ; chr5:g.96429167C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429167C>G , CM000667.2:g.96429167C>G	GRCh38
NC_000005.9:g.95764871C>G , CM000667.1:g.95764871C>G	GRCh37
NC_000005.8:g.95790627C>G	NCBI36
NG_021161.1:g.9115G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+46G>C MANE Select	ENSP00000308024.2:n.285+46G>C
ENST00000311106.7:c.285+46G>C	ENSP00000308024.2:n.285+46G>C
ENST00000508626.5:c.144+46G>C	ENSP00000421600.1:n.144+46G>C
ENST00000509190.1:c.285+46G>C	ENSP00000427294.1:n.285+46G>C
NM_000439.4:c.285+46G>C	NP_000430.3:n.285+46G>C
NM_001177875.1:c.144+46G>C	NP_001171346.1:n.144+46G>C
NR_130776.1:n.354+49515C>G
NM_000439.5:c.285+46G>C MANE Select	NP_000430.3:n.285+46G>C
NM_001177875.2:c.144+46G>C	NP_001171346.1:n.144+46G>C